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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Schwartz-Lelek Syndrome
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Accession:DOID:9007292 term browser browse the term
Synonyms:exact_synonym: craniometadiaphyseal dysplasia;   craniometadiaphyseal dysplasia, wormian bone type;   genetic craniotubular bone dysplasias and hyperostoses
 xref: MESH:C537519;   MIM:269300;   MONDO:0010014;   ORDO:85184


show annotations for term's descendants           Sort by:
Schwartz-Lelek Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type ClinVar PMID:25741868 NCBI chr 2:79,883,350...80,011,222
Ensembl chr 2:79,883,544...80,011,699 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type ClinVar PMID:25741868 NCBI chr 2:80,021,381...80,046,898
Ensembl chr 2:80,021,381...80,046,843 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Schwartz-Lelek Syndrome 3
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                Craniomandibular Disorders 28
                  craniometaphyseal dysplasia 3
                    Schwartz-Lelek Syndrome 3
paths to the root